Mutations in FLNB cause boomerang dysplasia.

doi:10.1136/jmg.2004.029967

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Article

Mutations in FLNB cause boomerang dysplasia.

Journal of medical genetics - 1 Jul 2005

Bicknell L S, Morgan T, Bonafé L, Wessels M W, Bialer M G, Willems P J, Cohn D H, Krakow D, Robertson S P

Abstract excerpt

Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD phenotype is similar to a group of disorders including atelosteogenesis I, atelosteogenesis III, and dominantly inherited Larsen syndrome that we have recently shown to be associated with mutations in FLNB, the gene encoding the actin binding cytoskeletal...

Topics

Abnormalities, Multiple
Aborted Fetus
Amino Acid Substitution
Animals
Binding Sites
Conserved Sequence
Contractile Proteins
DNA Mutational Analysis
Female
Filamins
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Microfilament Proteins

Mutation

Osteochondrodysplasias

Phenotype

Pregnancy

Pregnancy Trimester, Second

Source

Open in PubMed Open full text

Identifiers

PMID: 15994868
DOI: 10.1136/jmg.2004.029967
PMCID: PMC1736093

Genes

FLNB

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Mutations in FLNB cause boomerang dysplasia.PMID 15994868Read ↗

A case of boomerang dysplasia with a novel causative mutation in filamin B: identification of typical imaging findings on ultrasonography and 3D-CT imaging.Semantic proximity Read ↗

Mutations in two regions of<i>FLNB</i>result in atelosteogenesis I and IIISemantic proximity Read ↗

Filamin B mutations cause chondrocyte defects in skeletal development.Semantic proximity Read ↗

Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.Semantic proximity Read ↗

Filamin B deficiency in mice results in skeletal malformations and impaired microvascular developmentSemantic proximity Read ↗

Filamin B: The next hotspot in skeletal research?Semantic proximity Read ↗

Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains.Semantic proximity Read ↗

Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in FLNB.Semantic proximity Read ↗

Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts.Semantic proximity Read ↗

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.Semantic proximity Read ↗

Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.Semantic proximity Read ↗

Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.Semantic proximity Read ↗

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